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https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#1
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28333795/diagnostic-tests-for-evaluation-of-stillbirth-results-from-the-stillbirth-collaborative-research-network
#2
Jessica M Page, Lauren Christiansen-Lindquist, Vanessa Thorsten, Corette B Parker, Uma M Reddy, Donald J Dudley, George R Saade, Donald Coustan, Carol J Rowland Hogue, Deborah Conway, Radek Bukowski, Halit Pinar, Cara C Heuser, Karen J Gibbins, Robert L Goldenberg, Robert M Silver
OBJECTIVE: To estimate the usefulness of each diagnostic test in the work-up for potential causes of stillbirth. METHODS: A secondary analysis of 512 stillbirths enrolled in the Stillbirth Collaborative Research Network from 2006 to 2008 was performed. The Stillbirth Collaborative Research Network was a multisite, geographically, racially, and ethnically diverse, population-based study of stillbirth in the United States. Participants underwent standardized evaluations that included maternal interview, medical record abstraction, biospecimen collection, fetal autopsy, and placental pathology...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28332335/second-to-third-trimester-longitudinal-growth-assessment-for-the-prediction-of-sga-and-late-fgr
#3
J Caradeux, E Eixarch, E Mazarico, T R Basuki, E Gratacos, F Figueras
BACKGROUND: Detection of fetal growth restriction (FGR) remains poor. Most screening strategies rely on a cross-sectional evaluation of fetal size at one point during the third trimester. A longitudinal and individualized approach may allow a more appropriate evaluation. OBJECTIVES: To compare second to third trimester longitudinal growth assessment with cross-sectional evaluation at third trimester in the prediction of SGA and late FGR. METHODS: A cohort of 2696 unselected singletons pregnancies scanned at 21 ± 2 and 32 ± 2 weeks was created...
March 23, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28329257/lessons-learned-at-the-epicenter-of-brazil-s-congenital-zika-epidemic-evidence-from-87-confirmed-cases
#4
Jucille do Amaral Meneses, Ana Catarina Ishigami, Luisa Medeiros de Mello, Luciano Lira de Albuquerque, Carlos Alexandre Antunes de Brito, Marli Tenório Cordeiro, Lindomar José Pena
Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV specific antibodies and sera were screened for other congenital infections...
February 24, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#5
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: To clarify the usefulness of parental Alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from A multi-center cohort (fetal-skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#6
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28325913/persistent-dna-methylation-changes-associated-with-prenatal-mercury-exposure-and-cognitive-performance-during-childhood
#7
Andres Cardenas, Sheryl L Rifas-Shiman, Golareh Agha, Marie-France Hivert, Augusto A Litonjua, Dawn L DeMeo, Xihong Lin, Chitra J Amarasiriwardena, Emily Oken, Matthew W Gillman, Andrea A Baccarelli
Prenatal exposure to mercury, a known neurotoxic metal, is associated with lower cognitive performance during childhood. Disruption of fetal epigenetic programming could explain mercury's neurodevelopmental effects. We screened for epigenome-wide methylation differences associated with maternal prenatal blood mercury levels in 321 cord blood DNA samples and examined the persistence of these alterations during early (n = 75; 2.9-4.9 years) and mid-childhood (n = 291; 6.7-10.5 years). Among males, prenatal mercury levels were associated with lower regional cord blood DNA methylation at the Paraoxonase 1 gene (PON1) that persisted in early childhood and was attenuated in mid-childhood blood...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28321491/adverse-pregnancy-outcomes-in-healthcare-workers-a-korean-nationwide-population-based-study
#8
Chulyong Park, Mo-Yeol Kang, Dohyung Kim, Jaechan Park, Huisu Eom, Eun-A Kim
PURPOSE: To assess female healthcare workers' pregnancy complications and outcomes including abortion, fetal screening abnormalities, intrauterine growth retardation (IUGR), and preterm labor using nationwide population data and compare these results with those of the general population in Korea. METHODS: Korean National Health Insurance (NHI) claim data was used. We choose 3 different reference groups for comparison: (1) dependents of employees insured by NHI, i...
March 20, 2017: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#9
Carlo G Artieri, Carrie Haverty, Eric A Evans, James D Goldberg, Imran S Haque, Yuval Yaron, Dale Muzzey
OBJECTIVE: Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies...
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28315866/cerebrospinal-fluid-and-parenchymal-brain-development-and-growth-in-the-healthy-fetus
#10
Nickie N Andescavage, Adre DuPlessis, Robert McCarter, Gilbert Vezina, Richard Robertson, Catherine Limperopoulos
OBJECTIVE: The objective of this study was to apply quantitative magnetic resonance imaging to characterize absolute cerebrospinal fluid (CSF) development, as well as its relative development to fetal brain parenchyma in the healthy human fetus. DESIGN: We created three-dimensional high-resolution reconstructions of the developing brain for healthy fetuses between 18 and 40 weeks' gestation, segmented the parenchymal and CSF spaces, and calculated the volumes for the lateral, third, and fourth ventricles; extra-axial CSF space; and the cerebrum, cerebellum, and brainstem...
March 18, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28301892/evaluating-the-performance-of-ultrasound-screening-for-congenital-heart-disease-a-descriptive-cohort-study
#11
Rosemary J Froehlich, Lindsay Maggio, Phinnara Has, Erika F Werner, Dwight J Rouse
Objective The objective of this study was to evaluate the rate of abnormal fetal echocardiogram after normal detailed anatomy ultrasound when both are performed by maternal-fetal medicine specialists. Study Design Retrospective review of women who underwent detailed anatomy ultrasound and fetal echocardiography between 16 and 26 weeks' gestation at a single center. Women included had at least one indication for fetal echocardiography as recommended by the American Institute of Ultrasound in Medicine and normal cardiac anatomy on initial detailed anatomy ultrasound...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#12
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28299806/an-audit-of-second-trimester-fetal-anomaly-scans-based-on-a-novel-image-scoring-method-in-the-southwest-region-of-the-netherlands
#13
Nicolette T C Ursem, Ingrid A Peters, Mieke N Kraan-van der Est, Jacqueline C I Y Reijerink-Verheij, Maarten F C M Knapen, Titia E Cohen-Overbeek
OBJECTIVES: Since 2007 the second-trimester fetal anomaly scan is offered to all pregnant women as part of the national prenatal screening program in the Netherlands. Dutch population-based screening programs generally have a well-described system to achieve quality assurance. Because of the absence of a uniform system to monitor the actual performance of the fetal anomaly scan in 2012, we developed a standardized image-scoring method. The aim of this study was to evaluate the scanning performance of all sonographers in the southwestern region of the Netherlands using this image-scoring method...
March 16, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28295782/multicenter-screening-for-preeclampsia-by-maternal-factors-and-biomarkers-at-11-13-weeks-gestation-comparison-to-nice-guidelines-and-acog-recommendations
#14
Neil O' Gorman, David Wright, Liona C Poon, Daniel L Rolnik, Argyro Syngelaki, Mercedes de Alvarado, Ilma F Carbone, Vivien Dutemeyer, Madgalena Fiolna, Alex Frick, Natalia Karagiotis, Sofia Mastrodima, Catalina de Paco Matallana, George Papaioannou, Andrea Pazos, Walter Plasencia, Kypros H Nicolaides
OBJECTIVE: To compare the performance of screening for preeclampsia (PE) based on risk factors from the medical history, as recommended by NICE and ACOG, with the method proposed by the Fetal Medicine Foundation (FMF), which uses Bayes theorem to combine the a priori risk from maternal factors, derived by a multivariable logistic model, with the results of various combinations of biophysical and biochemical measurements. METHODS: This was a prospective multicenter study of screening for PE in 8,775 singleton pregnancies at 11-13 weeks' gestation...
March 10, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28295170/implementing-universal-cervical-length-screening-in-asymptomatic-women-with-singleton-pregnancies-challenges-and-opportunities
#15
Michelle K Pedretti, Brenda M Kazemier, Jan E Dickinson, Ben W J Mol
Cervical length (CL) screening has been successfully utilised to identify asymptomatic women, with a singleton pregnancy, at risk of preterm birth (PTB), thereby providing an opportunity to offer interventions that may reduce that risk. Cervical length screening with ultrasound is most effectively performed with a transvaginal approach. Universal cervical length screening, encompassing all singleton pregnancies rather than restricting screening to those considered at increased risk of PTB, is currently not widely used, despite a growing body of evidence in support of its utility for PTB prevention...
March 10, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28295165/declining-invasive-prenatal-diagnostic-procedures-a-comparison-of-tertiary-hospital-and-national-data-from-2012-to-2015
#16
Kristine Johnson, Joanne Kelley, Virginia Saxton, Susan P Walker, Lisa Hui
BACKGROUND: In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% national decline in amniocenteses and chorionic villus sampling (CVS), creating new implications for specialist training. OBJECTIVE: To compare the annual figures on amniocenteses and CVS in a tertiary hospital with national population-based trends between 2012 and 2015. METHODS: Retrospective study examining the amniocentesis and CVS procedures performed in a tertiary hospital between 2012 and 2015...
March 13, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28295159/first-and-second-trimester-serum-tests-with-and-without-first-trimester-ultrasound-tests-for-down-s-syndrome-screening
#17
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three copies of chromosome 21 (or the specific area of chromosome 21 implicated in causing Down's syndrome) rather than two. It is the commonest congenital cause of mental disability. Non-invasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being affected and provides information to guide decisions about definitive testing.  Before agreeing to screening tests, parents need to be fully informed about the risks, benefits and possible consequences of such a test...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28295158/first-trimester-ultrasound-tests-alone-or-in-combination-with-first-trimester-serum-tests-for-down-s-syndrome-screening
#18
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Having a baby with Down's syndrome is likely to have a significant impact on family life...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28294365/prevalence-of-prenatal-alcohol-exposure-in-the-state-of-texas-as-assessed-by-phosphatidylethanol-in-newborn-dried-blood-spot-specimens
#19
Ludmila N Bakhireva, Janet Sharkis, Shikhar Shrestha, Tristan J Miranda-Sohrabji, Sonnie Williams, Rajesh C Miranda
BACKGROUND: While 2-5% of school-aged children in the U.S. are estimated to be affected by Fetal Alcohol Spectrum Disorders (FASD), the prevalence of prenatal alcohol exposure (PAE) might be substantially under-reported. Our objective was to systematically estimate the prevalence of PAE in Texas by measuring a direct ethanol metabolite, phosphatidylethanol (PEth), in 1,000 infant residual dried blood spots (irDBS) in the Texas Newborn Screening Repository. METHODS: All Public Health Regions were represented proportional to their 2014 birth rate (~0...
March 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28293090/proteomic-profiling-of-fetal-esophageal-epithelium-esophageal-cancer-and-tumor-adjacent-esophageal-epithelium-and-immunohistochemical-characterization-of-a-representative-differential-protein-prx6
#20
Jun-Hui Guo, Guo-Lan Xing, Xin-Hui Fang, Hui-Fang Wu, Bo Zhang, Jin-Zhong Yu, Zong-Min Fan, Li-Dong Wang
AIM: To understand the molecular mechanism of esophageal cancer development and provide molecular markers for screening high-risk populations and early diagnosis. METHODS: Two-dimensional electrophoresis combined with mass spectrometry were adopted to screen differentially expressed proteins in nine cases of fetal esophageal epithelium, eight cases of esophageal cancer, and eight cases of tumor-adjacent normal esophageal epithelium collected from fetuses of different gestational age, or esophageal cancer patients from a high-risk area of esophageal cancer in China...
February 28, 2017: World Journal of Gastroenterology: WJG
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